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Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.

Authors
  • Eisensmith, R C
  • Martinez, D R
  • Kuzmin, A I
  • Goltsov, A A
  • Brown, A
  • Singh, R
  • Elsas LJ, I I
  • Woo, S L
Type
Published Article
Journal
Pediatrics
Publication Date
Apr 01, 1996
Volume
97
Issue
4
Pages
512–516
Identifiers
PMID: 8632937
Source
Medline
License
Unknown

Abstract

These results demonstrate strong correlations between PAH genotype and biochemical and clinical phenotypes in this heterogeneous American sample population, extending our previous findings from relatively homogeneous European populations. These correlations further demonstrate the clinical utility of genotype analysis in the treatment of patients with PKU and HPA.

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